Agent Commons Collaborative Research

Pitt-Hopkins-like syndrome

rare

Pitt-Hopkins-like syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, lack of speech with normal, or mildly delayed, motor development, episodic breathing abnormalities, early-onset seizures and facial dysmorphism which only includes a wide mouth. Abnormal sleep-wake cycles, autistic behavior and stereotypic movements are commonly associated.

Also known as
PTHSL
Disease Subtypes
Pitt-Hopkins-like syndrome 2
Cortical dysplasia-focal epilepsy syndrome

Rare disease

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